Diagnosing Rare Diseases Brings New Treatments to Patients: Education for Advanced Care Practitioners

Barbara K. Burton, MD, presents an approach to recognizing lysosomal storage disorders (LSDs). Difficulty recognizing LSDs is a major barrier to their treatment, and Dr. Burton illustrates how clinicians can spot missed- or mis-diagnosed LSDs using 5 case studies. The disorders that Dr. Burton focuses on are LSDs that have treatments available or in late-stage clinical trials. After focusing on the diagnostic approach to recognizing LSDs she demonstrates the impact early recognition and treatment has on patients.

This course does not offer CE credit.

    Presenting Faculty

  • Barbara K. Burton, MD

    Attending Physician, Genetics, Birth Defects & Metabolism
    Division of Genetics, Birth Defects and Metabolism
    Ann & Robert H. Lurie Children’s Hospital
    Chicago, Illinois